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mutation rate
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MUDr. Bořivoj Petrák CSc.
Academic staff at Second Faculty of Medicine
40 publications
Publications
publication
The importance of advanced parental age in the origin of neurofibromatosis type 1
2012 |
Second Faculty of Medicine
publication
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
2007 |
Second Faculty of Medicine
publication
Poruchy rovnováhy v dětském věku
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Neurofibromatosis von Recklinghausen type I (NF1) - clinical picture in childhood, diagnosis and therapy
2023 |
Second Faculty of Medicine
publication
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
2023 |
Second Faculty of Medicine
publication
Children's Ophthalmology
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Education, Faculty of Medicine in Hradec Králové
publication
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
2022 |
Second Faculty of Medicine
publication
Basics of pediatric neurology
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Pediatric neurology
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1
2021 |
Second Faculty of Medicine
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